ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) (rs35795890)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124401 SCV000167834 benign not specified 2013-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203161 SCV000257625 benign Ehlers-Danlos syndrome, type 4 2015-07-22 criteria provided, single submitter clinical testing
Invitae RCV000203161 SCV000283455 benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000124401 SCV000302021 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250986 SCV000317339 benign Cardiovascular phenotype 2014-06-26 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);Other strong data supporting benign classification;Co-occurence with mutation in same gene (phase unknown)
Illumina Clinical Services Laboratory,Illumina RCV000203161 SCV000425517 benign Ehlers-Danlos syndrome, type 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000124401 SCV000603139 benign not specified 2019-02-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590111 SCV000695359 benign not provided 2016-02-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769567 SCV000900964 benign Familial thoracic aortic aneurysm and aortic dissection 2016-05-17 criteria provided, single submitter clinical testing
Color RCV000769567 SCV000902690 benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-12 criteria provided, single submitter clinical testing
Mendelics RCV000203161 SCV001136116 likely benign Ehlers-Danlos syndrome, type 4 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590111 SCV001250008 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing

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